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Active clinical trials for "Down Syndrome"

Results 261-270 of 313

Prenatal Screening for Down Syndrome With DNAFirst

Trisomy 21Trisomy 182 more

This study will explore how maternal plasma circulating cell free DNA (ccfDNA) can be used as a primary screening test for Down syndrome as part of routine clinical care in the general pregnancy population. Plasma ccfDNA testing is currently recommended only for use as a secondary screen for 'high-risk' women (i.e., women whose risk factors for trisomy make them candidates for invasive testing such as chorionic villous sampling or amniocentesis). Because most women in this 'high-risk' category are carrying unaffected fetuses, many 'unnecessary' procedures are completed in order to identify the few women whose fetuses have a chromosomal disorder. This creates expense, anxiety, and most importantly, loss of unaffected fetuses due to procedure related miscarriage. Plasma DNA testing is now being used to reduce significantly the number of women with unaffected fetuses undergoing invasive testing. Applying such testing as a 'first-line' screen has not been well-explored, despite calls from several clinical professional societies to do so. The investigators intent is to introduce, under carefully monitored conditions, ccfDNA testing through Rhode Island primary prenatal practices to the general pregnancy population. Education/orientation of prenatal care providers, their staffs, and their patients will be carefully orchestrated, and implementation issues identified and addressed. Telephone surveys of consented patients will elicit responses to their understanding of the test, their satisfaction with the process, and a comparison of their experience with serum screening in a prior pregnancy. Knowledge gained from this study will help validate new screening paradigms involving ccfDNA testing. The study is not designed to estimate Down syndrome detection rates with any confidence, but can provide information on uptake rates, failure rates, screen positive rates, and the decision-making of women with positive test results.

Completed8 enrollment criteria

Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

Down Syndrome (Trisomy 21)Edwards Syndrome (Trisomy 18)2 more

Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate markers.

Completed7 enrollment criteria

Non-Invasive Chromosomal Evaluation of Trisomy Study

AneuploidyTrisomy 213 more

This study is being conducted to provide clinically annotated samples to support continued improvements in the Ariosa Test content, methodology, specimen processing and quality control.

Completed8 enrollment criteria

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

22q11 Deletion SyndromeDiGeorge Syndrome9 more

This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and elect Panorama microdeletion and aneuploidy screening as part of their routine care. The primary objective is to evaluate the performance of Single Nucleotide Polymorphism (SNP)-based Non Invasive Prenatal Testing (NIPT) for 22q11.2 microdeletion (DiGeorge syndrome) in this large cohort of pregnant women. This will be done by performing a review of perinatal medical records and obtaining biospecimens after birth to perform genetic diagnostic testing for 22q11.2 deletion. Results from the follow-up specimens will be compared to those obtained by the Panorama screening test to determine test performance. Specific test performance parameters will include: PPV, specificity, and sensitivity.

Completed8 enrollment criteria

High Risk Multiple Gestation Study

Trisomy 13Trisomy 182 more

The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample. The long term goal of this study will be the development of a method of minimally invasive prenatal diagnosis that has a higher sensitivity and lower false positive rate in the intended population (e.g. multiple gestation pregnancies) than other currently available screening tests. This will result in fewer unnecessary amniocenteses and Chorionic Villus Sample (CVS) procedures, which are associated with a risk of miscarriage.

Completed17 enrollment criteria

Comparison of Aneuploidy Risk Evaluations

PregnancyDown Syndrome3 more

This is a prospective, multi-center observational study designed to compare the test results of the Verinata Health Prenatal Aneuploidy Test to results of conventional prenatal screening for fetal chromosome abnormalities in 'all-risk' pregnancies.

Completed8 enrollment criteria

Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

Down SyndromeFetal Aneuploidy

Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.

Completed6 enrollment criteria

Clinical Performance of NIPT in Multiple Gestation Pregnancies

Trisomy 21 in Fetus

This study plans to evaluate the clinical performance of the MaterniT21 PLUS and/or GENOME Laboratory Developed Test, in the detection of fetal trisomy 21 in circulating cell-free DNA extracted from maternal blood samples obtained from women pregnant with a twin gestation.

Completed3 enrollment criteria

OHRQoL and Parental Perception in a Group of Children and Adolescents With Down Syndrome: A Cross...

Quality of LifeDown Syndrome1 more

The aim of the study is to evaluate Oral Health related quality of life of children and adolescents with down syndrome and Parental Perception, knowledge and Attitude on oral health conditions of children and adolescents with down syndrome

Completed4 enrollment criteria

Vascular Health and Risk Factors in Children With Down Syndrome

Down SyndromeCardiovascular Risk Factor1 more

This is a prospective, multicenter, cross-sectional study to evaluate prevalence of vascular risk factors in children with Down Syndrome and to determine the association between vascular disease risk factors and objective markers of early atherosclerosis.

Completed6 enrollment criteria
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